Cerebrovascular disease knowledge portal an open-access data resource to accelerate genomic discoveries in stroke

Katherine M. Crawford, Cristina Gallego-Fabrega, Christina Kourkoulis, Laura Miyares, Sandro Marini, Jason Flannick, Noel P. Burtt, Marcin Von Grotthuss, Benjamin Alexander, Maria C. Costanzo, Neil H. Vaishnav, Rainer Malik, Jennifer L. Hall, Michael Chong, Jonathan Rosand, Guido J. Falcone

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Stroke is a leading cause of death and disability across the globe, affecting 15 million people each year.1 Stroke represents an archetypical common complex disease with both genetic and environmental determinants2,3 playing a role in its occurrence. The proportion of stroke risk that can be attributed to genetic variation has been estimated to be 30%.4-6 Although this estimate provides an indication of the overall importance of genetic variation in stroke, the key to developing new treatment strategies is to identify the specific genetic variants (mutations) that modify an individual's risk of stroke. Genetic association studies (GWAS) seek to identify these variants and link them to specific genes, which, in turn, point to specific cellular processes to become therapeutic targets for drug development. In addition, newly discovered genetic risk loci can be used to improve existing phenotyping systems, enhance prediction tools aimed to identify high-risk patients, and aid in establishing causality for associations involving nongenetic exposures. Successfully identifying the range of genetic variants that cause stroke and leveraging these discoveries to reduce the suffering caused by this condition requires overcoming several key challenges. First, stroke is the final result of multiple different pathological processes and must, therefore, be accurately subtyped to identify underlying biology. Second, because large number of cases and controls are required to identify the culprit genetic variants, tens (even hundreds) of thousands of cases must be studied, requiring the collaboration of multiple centers, many of which use different ascertainment methods and criteria. Third, because genetic variation differs across the globe, representative populations from all ethnicities must be studied. Finally, all these data must be shared rapidly and widely to ensure the most expedited progress in research and enable investigators with the brightest ideas to utilize these data provided by patients to facilitate stroke research. The Cerebrovascular Disease Knowledge Portal (CDKP) has been created by the International Stroke Genetics Consortium (ISGC) to overcome these challenges and enable data sharing as freely and rapidly as possible.

Original languageEnglish (US)
Pages (from-to)470-475
Number of pages6
JournalStroke
Volume49
Issue number2
DOIs
StatePublished - 2018

Bibliographical note

Funding Information:
The creation of the CDKP, funded by the National Institute of Neurological Disorders and Stroke, has been a joint effort of the ISGC, the Broad Institute, and the American Heart Association Institute for Precision Cardiovascular Medicine. Given its extensive experience with similar projects, the Broad Institute hosts the data available through the platform and developed the informatic framework and analytic tools used by the CDKP. A dedicated steering committee, consisting of ISGC members who have contributed data to the portal, oversees the CDKP. An operations committee, consisting of ISGC members and Broad Institute staff, is responsible for the everyday operations of the CDKP. In addition, the ISGC has created a Data Access Committee that is responsible for ensuring access to all data. Any investigator wishing to contribute data to the CDKP can contact the Operations Committee at cerebrovascular.disease.portal@gmail.com. Several different types of data can be deposited in the CDKP, including summary statistics, raw individual-level genetic data, and postprocessing

Funding Information:
The Cerebrovascular Disease Knowledge Portal (CDKP) was launched with funding from the National Institute of Neurological Disorders and Stroke (R24 NS092983) to Dr Rosand. Dr Rosand is supported by the National Institute of Neurological Disorders and Stroke (NS073344 and NS093870). Dr Falcone is supported by a Yale Pepper Scholar Award (P30AG021342) and the Neurocritical Care Society Research Fellowship. Dr Malik is supported by the European Union Horizon 2020 project CoSTREAM (grant agreement No. 667375).

Publisher Copyright:
© 2018 American Heart Association, Inc.

Keywords

  • Cause of death
  • Cerebral hemorrhage
  • Humans
  • Research
  • Stroke

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